A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286512



Internal ID22123719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151664899..151667825hg38UCSC Ensembl
chr1:151637375..151640301hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382927
hg192927
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207688
Supporting Variants
SamplesHG00512
Known GenesSNX27
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286512
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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